Chromosome 3, Trisomy 3q2
It is possible that the main title of the report Chromosome 3, Trisomy 3q2 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Chromosome 3, Distal 3q2 Trisomy
- Chromosome 3, Distal 3q2 Duplication
- Partial Trisomy 3q Syndrome
- Partial Duplication 3q Syndrome
Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3. However, many affected infants and children have developmental delays, mental retardation, and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Such craniofacial abnormalities may include a relatively short head (brachycephaly), widely spaced eyes (ocular hypertelorism), upwardly slanting eyelid folds (palpebral fissures), and a small nose with upturned nostrils (anteverted nares). Affected infants and children also tend to have long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low hairline on the forehead and the back of the neck; and generalized excessive hair growth (hirsutism). Chromosome 3, Trisomy 3q2 may also be characterized by eye (ocular) abnormalities, limb defects, structural heart malformations (congenital heart defects), or other physical features.
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, CR3 5GN
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126